A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519429



Internal ID15446722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242644697..243174914hg38UCSC Ensembl
Innerchr1:242807999..243338216hg19UCSC Ensembl
Innerchr1:240874622..241404839hg18UCSC Ensembl
Innerchr1:239134040..239664257hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38530218
hg19530218
hg18530218
hg17530218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696849
Samples
Known GenesCEP170, LOC731275
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519429
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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